지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2019.1
- 수록면
- 175 - 180 (6page)
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초록· 키워드
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Diagnosis of pre-lingual hearing loss (HL) is difficult owing to the high number of genes responsible. The most frequent cause of HL is DFNB1 due to mutations in the GJB2 gene. It represents up to 40% of HL cases in some populations. In Iran, it has previously been shown that DFNB1 accounts for 16-18% of cases but varies among different ethnic groups. Here, we reviewed results from our three previous publications and data from other published mutation reports to provide a comprehensive collection of data for GJB2 mutations and HL in northern Iran. In total, 903 unrelated families from six different provinces, viz., Gilan, Mazandaran, Golestan, Ghazvin, Semnan, and Tehran, were included and analyzed for the type and prevalence of GJB2 mutations. A total of 23 different genetic variants were detected from which 18 GJB2 mutations were identified. GJB2 mutations were 20.7% in the studied northern provinces, which was significantly higher than that reported in southern populations of Iran. Moreover, a gradient in the frequency of GJB2 mutations from north to south Iran was observed. c.35delG was the most common mutation, accounting for 58.4% of the cases studied. This study suggests that c.35delG mutation in GJB2 is the most important cause of HL in northern Iran.
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등록된 정보가 없습니다.
참고문헌 (44)
참고문헌 신청
Morton CC / 2006 / Newborn hearing screening--a silent revolution / N Engl J Med 354:2151~2164
Bakhchane A / 2016 / Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss / Eur J Med Genet 59:325~329
Nishio SY / 2015 / Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan / Ann Otol Rhinol Laryngol 124(Suppl 1):49S~60S
Hamelmann C / 2001 / Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana / Hum Mut 18:84~85
Al-Qahtani MH / 2010 / Spectrum of GJB2 mutations in a cohort of nonsyndromic hearing loss cases from the Kingdom of Saudi Arabia / Genet Test Mol Biomarkers 14:79~83
Bakhchane A / 2016 / Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss / Eur J Med Genet 59:325~329
Nishio SY / 2015 / Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan / Ann Otol Rhinol Laryngol 124(Suppl 1):49S~60S
Hamelmann C / 2001 / Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana / Hum Mut 18:84~85
Al-Qahtani MH / 2010 / Spectrum of GJB2 mutations in a cohort of nonsyndromic hearing loss cases from the Kingdom of Saudi Arabia / Genet Test Mol Biomarkers 14:79~83
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